Pediatric Rheumatology

Pediatric rheumatology is a medical specialty focused on the diagnosis and treatment of rheumatic diseases seen in children. A Life Sağlık Grubu Pediatric Rheumatology Department examines musculoskeletal problems and autoimmune processes in growing children. With early diagnosis and appropriate treatment, we aim to help children lead a quality life.

Pediatric rheumatology is a medical specialty that deals with diseases seen in children and adolescents aged 0-18 years. These diseases include:

• Musculoskeletal diseases

• Connective tissue diseases

• Autoinflammatory diseases

These conditions typically affect joints, muscles, bones, tendons, ligaments, and sometimes internal organs.

A pediatric rheumatologist diagnoses these diseases, creates treatment plans, and monitors patients long-term. Their goals are to reduce pain, improve function, control disease progression, and enhance quality of life.

The main disease groups and conditions covered by pediatric rheumatology are:

• Juvenile Idiopathic Arthritis (JIA): The most common chronic arthritis in childhood, with various subtypes causing joint swelling, pain, and limited movement. It can sometimes affect eyes, skin, and other organs.

• Systemic Lupus Erythematosus (SLE): A chronic autoimmune disease attacking the body’s own tissues and cells, affecting joints, skin, kidneys, blood cells, brain, heart, and lungs.

• Juvenile Dermatomyositis: A rare autoimmune disease characterized by muscle weakness and distinctive skin rashes.

• Scleroderma (Systemic Sclerosis): A rare disease causing hardening of skin and other organs due to excessive connective tissue production.

• Vasculitides: A group of diseases characterized by inflammation of blood vessels. Pediatric vasculitides include:

  • Henoch-Schönlein Purpura

  • Kawasaki Disease

  • Polyarteritis Nodosa

  • Takayasu Arteritis

  • Wegener’s Granulomatosis (Granulomatosis with Polyangiitis)

• Autoinflammatory Syndromes: Genetic diseases with recurrent fever attacks and inflammation due to immune system hyperactivity. Examples include Familial Mediterranean Fever (FMF), Cryopyrin-Associated Periodic Syndromes (CAPS), and Mevalonate Kinase Deficiency (MKD).

• Reactive Arthritis: Joint inflammation developing after an infection.

• Post-Streptococcal Reactive Arthritis and Acute Rheumatic Fever: Inflammatory conditions following streptococcal infections.

• Bone and Joint Pains: Conditions like growing pains, which are benign, but can also be signs of rheumatologic diseases.

• Recurrent Fever Syndromes: Conditions with periodic unexplained fever episodes.

• Other Connective Tissue Diseases: Rare connective tissue diseases also fall under pediatric rheumatology.

It is a rare vasculitis characterized by inflammation of large arteries such as the aorta and its main branches. It typically affects young women and can cause symptoms such as absent pulses in the arms and legs, high blood pressure, and other signs.

Kawasaki disease is a rare but serious condition seen in children that affects the blood vessels. It usually occurs in children under the age of 5, and its exact cause is unknown. The disease causes inflammation in medium-sized arteries throughout the body, particularly affecting the coronary arteries (the vessels that supply blood to the heart).

It is a rare systemic vasculitis that causes inflammation in the walls of medium-sized arteries. It can affect many organs such as the kidneys, intestines, nerves, and skin.

It is a type of vasculitis (inflammation of blood vessels) seen especially in children. It affects small blood vessels, causing purple skin rashes, joint pain, abdominal pain, and sometimes kidney problems.

It is a rare disease that causes inflammation of small and medium-sized blood vessels and the formation of abnormal tissue clusters called granulomas. It most commonly affects the upper and lower respiratory tracts, lungs, and kidneys.

Otoinflamatuvar hastalıklar, bağışıklık sisteminin doğuştan gelen kısmının aşırı veya düzensiz çalışmasıyla oluşur. Bu hastalıklar, tekrarlayan inflamatuvar ataklarla tanınan genetik veya çok faktörlü hastalıklardır.

Otoimmün hastalıklardan farklı olarak, otoinflamatuvar hastalıklarda bağışıklık sistemi genellikle vücudun kendi antijenlerine karşı spesifik bir yanıt geliştirmez. Bunun yerine, içsel savunma mekanizmalarındaki bir dengesizlik sonucu kontrolsüz bir inflamasyon süreci tetiklenir.

Familial Mediterranean Fever (FMF) is a genetic disease. This disease is especially seen in communities of Mediterranean and Middle Eastern origin. Turks, Jews, Arabs, and Armenians are among these communities. The main characteristic of FMF is recurrent episodes of fever and pain.

Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of genetically inherited autoinflammatory diseases. These syndromes are caused by mutations in the NLRP3 gene. The NLRP3 gene encodes cryopyrin, a protein that plays a crucial role in the body's immune system and triggers inflammation. Mutations in this gene cause cryopyrin to become overactive, leading to uncontrolled inflammatory attacks.

Mevalonate Kinase Deficiency (MKD) is a rare autoinflammatory syndrome caused by mutations in the MEV gene. This gene encodes an enzyme called mevalonate kinase, which plays a role in the mevalonate pathway responsible for synthesizing important molecules like cholesterol and isoprenoids. In MKD, the activity of the mevalonate kinase enzyme is reduced or completely absent, leading to uncontrolled inflammatory attacks.

A rare autoimmune disease in children. This disease causes muscle weakness and skin rashes. The term "Juvenil" indicates that the disease begins in childhood. "Dermato" refers to skin-related symptoms, while "myo" refers to muscle-related symptoms.

Juvenile Idiopathic Arthritis (JIA) is a chronic disease characterized by inflammation (arthritis) in one or more joints, starting before the age of 16, lasting at least six weeks, and of unknown cause (idiopathic). It is the most common rheumatologic disease in childhood. JIA is not a single disease but encompasses a group of diseases with different clinical features and courses.

It is a disease characterized by excessive production and accumulation (fibrosis) of connective tissue in the skin and other organs. "Sclero" means hard, and "derma" means skin. However, systemic sclerosis affects not only the skin but also blood vessels and internal organs. These organs include the lungs, heart, kidneys, and digestive system.

Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease in which the body attacks its own healthy tissues and cells. This condition can cause inflammation and damage in various parts of the body. The term "systemic" means that the disease can affect many different organs of the body.

SLE is often called the "butterfly disease" because some patients develop a butterfly-shaped rash across the bridge of the nose and cheeks.

Diagnosis of pediatric rheumatology diseases is similar to that of adult rheumatology diseases. However, children's growth and development characteristics differ. Additionally, children may have difficulty expressing their feelings. This situation can affect the course of the disease.

Therefore, pediatric rheumatology carries its own unique challenges.

The diagnosis and treatment process usually includes the following steps:

Detailed Medical History (Anamnesis):

• Onset and Course of Complaints: Symptoms such as pain, swelling, restricted movement, fever, rash, and fatigue are important. The time of symptom onset is examined. Also, how the symptoms progress is questioned—whether continuous, intermittent, or episodic. Severity and triggering factors are also assessed.

• Characteristics of Pain: Location, spread, and nature of pain are important. It may be sharp, throbbing, or aching. When the pain increases or decreases is important. Morning stiffness is also checked.

• Symptoms Related to Other Systems: Eye redness, pain, or vision problems may be present. Sores in the mouth or genital area are also investigated. Symptoms such as abdominal pain, diarrhea, and constipation are important. Shortness of breath, chest pain, headache, and neurological symptoms are also checked.

• Growth and Development History: Information about the child's growth curve, motor, and cognitive development is obtained. Growth retardation may be a sign of some rheumatologic diseases.

• Family History: Whether there are rheumatologic diseases in the family, such as rheumatoid arthritis, ankylosing spondylitis, lupus, or FMF. Autoimmune diseases are also significant. Genetic predisposition can affect some diseases.

• Past Illnesses and Vaccinations: Information about infections (especially streptococcal infections), vaccinations, and medications used is obtained. Some rheumatologic diseases may develop post-infection.

Comprehensive Physical Examination:

• General Assessment: The child's appearance, activity level, weight and height, skin color, and rashes are checked.

• Musculoskeletal System Examination:

  • All joints are examined.

  • Number, symmetry, swelling, temperature, redness, movement, and tenderness of joints are checked.

  • Muscle strength, gait, posture, and spine are also evaluated. Morning stiffness and joint stiffness are assessed.

• Examination of Other Systems:

  • Examination of the heart, lungs, abdomen, lymph nodes, and nervous system is important.

  • These examinations are necessary to understand the effects of rheumatologic diseases.

Laboratory Tests:

A wide variety of blood and urine tests are used in the diagnosis of rheumatologic diseases. These tests help evaluate inflammation markers, autoantibodies, genetic markers, and organ functions. Some frequently used tests include:

• Inflammation Markers: Erythrocyte Sedimentation Rate (ESR), C-Reactive Protein (CRP), ferritin indicate inflammation levels in the body but are non-specific and can rise in infections and other conditions.

• Autoantibody Tests:

  • Antinuclear Antibody (ANA) test helps in diagnosing autoimmune diseases.

  • Rheumatoid Factor (RF) test is similarly useful.

  • Anti-Cyclic Citrullinated Peptide (Anti-CCP) test is used in autoimmune disease diagnosis but positive results do not always mean disease; some healthy individuals may test positive.

• Genetic Tests: MEFV gene mutations are important for Familial Mediterranean Fever (FMF).

  • NLRP3 gene mutations are important for Cryopyrin-Associated Periodic Syndromes (CAPS). These tests are used for diagnosing certain genetic diseases.

• Complete Blood Count (CBC): Anemia, leukocyte (white blood cell), or platelet abnormalities may be present and can be associated with some rheumatologic diseases.

• Liver and Kidney Function Tests: Some rheumatologic diseases and medications can affect these organs.

• Urinalysis: Important for assessing kidney involvement (proteinuria, hematuria, etc.).

• Joint Fluid Analysis (Arthrocentesis): Fluid is taken from swollen and painful joints to check for inflammatory cells, bacteria, or crystals, especially important in differentiating septic arthritis.

Imaging Methods:

• X-Ray: Used to examine bone and joint structure, showing erosions, cartilage loss, or calcifications.

• Ultrasonography (USG): Evaluates soft tissues and fluid accumulation within joints; useful for examining tendons and ligaments. Doppler USG can check blood flow.

• Magnetic Resonance Imaging (MRI):

  • Shows bone marrow edema.

  • Details synovitis (inflammation of joint lining).

  • Shows tendon and ligament damage.

• Computed Tomography (CT): Used in some cases for better bone structure evaluation.

• Bone Scintigraphy: Helps show widespread bone and joint inflammation or involvement.

Other Diagnostic Procedures:

• Biopsy: Samples taken from skin rashes, muscles, or other tissues may be needed for diagnosing some vasculitis and rheumatologic diseases.

• Eye Examination: Regular eye exams are important in patients at risk of uveitis, including those with Juvenile Idiopathic Arthritis.

Diagnostic Process and Challenges:

Diagnosis of pediatric rheumatologic diseases often takes time and requires a multidisciplinary approach. No single test or finding usually confirms the diagnosis. Diagnosis is made by combining clinical findings, laboratory tests, and imaging methods.

• Expert Team: We have a team of experienced doctors specialized in pediatric rheumatology.
• Child-Friendly Environment: We offer a specially designed environment to ensure children feel comfortable and safe.
• Multidisciplinary Approach: We collaborate with doctors from various specialties according to your child's needs to create a comprehensive treatment plan.
• Advanced Technology: We use the latest technologies in diagnosis and treatment processes to provide the best and most reliable service to your children.
• Patient-Centered Approach: We actively inform families during the treatment process and involve them in the process.

As A Life Sağlık Grubu, we are here to protect your children’s health and provide them with the best care. Our pediatric rheumatology specialists create treatment plans tailored to your children’s needs to help them regain their health.